CD2AP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 153225	GRCh38/hg38 6p12.3(chr6:47191779-51427306)x1	ADGRF2, ADGRF4 +64 more	Copy number loss	See cases	GLikely pathogenic
Select item 357150	NM_012120.3(CD2AP):c.-441C>G	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 357149	NM_012120.3(CD2AP):c.-441C>A	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 357151	NM_012120.3(CD2AP):c.-438C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357152	NM_012120.3(CD2AP):c.-329C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357153	NM_012120.3(CD2AP):c.-324G>C	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357154	NM_012120.3(CD2AP):c.-297G>C	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357155	NM_012120.3(CD2AP):c.-267G>A	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GBenign
Select item 357156	NM_012120.3(CD2AP):c.-197C>T	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 357157	NM_012120.3(CD2AP):c.-192A>C	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 357158	NM_012120.3(CD2AP):c.-191G>A	CD2AP, CD2AP-DT +1 more	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357159	NM_012120.3(CD2AP):c.-167_-165del	CD2AP	Deletion (5 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 910328	NM_012120.3(CD2AP):c.-166A>G	CD2AP	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GUncertain significance
Select item 357160	NM_012120.3(CD2AP):c.-130C>G	CD2AP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 910329	NM_012120.3(CD2AP):c.-69C>A	CD2AP	Single nucleotide variant (5 prime UTR variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357161	NM_012120.3(CD2AP):c.-55_-54insAGG	CD2AP	Insertion (5 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 357162	NM_012120.3(CD2AP):c.-54T>A	CD2AP	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 357163	NM_012120.3(CD2AP):c.-4dup	CD2AP	Duplication (5 prime UTR variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1987219	NM_012120.3(CD2AP):c.4+7_4+8del	CD2AP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1564026	NM_012120.3(CD2AP):c.4+9C>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260190	NM_012120.3(CD2AP):c.4+16G>A	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1273719	NM_012120.3(CD2AP):c.4+262T>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1638570	NM_012120.3(CD2AP):c.5-20G>A	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GLikely benign
Select item 2969694	NM_012120.3(CD2AP):c.5T>G (p.Val2Gly)	CD2AP (V2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633918	NM_012120.3(CD2AP):c.9C>G (p.Asp3Glu)	CD2AP (D3E)	Single nucleotide variant (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 3140498	NM_012120.3(CD2AP):c.23A>G (p.Tyr8Cys)	CD2AP (Y8C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 999719	NM_012120.3(CD2AP):c.26A>G (p.Asp9Gly)	CD2AP (D9G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GUncertain significance
Select item 2656634	NM_012120.3(CD2AP):c.29A>G (p.Tyr10Cys)	CD2AP (Y10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065595	NM_012120.3(CD2AP):c.30T>G (p.Tyr10Ter)	CD2AP (Y10*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 3, susceptibility to	GLikely pathogenic
Select item 792040	NM_012120.3(CD2AP):c.42T>C (p.His14=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 981943	NM_012120.3(CD2AP):c.62G>A (p.Arg21Gln)	CD2AP (R21Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3140501	NM_012120.3(CD2AP):c.68G>C (p.Gly23Ala)	CD2AP (G23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1040301	NM_012120.3(CD2AP):c.81G>T (p.Arg27Ser)	CD2AP (R27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313313	NM_012120.3(CD2AP):c.118G>A (p.Gly40Arg)	CD2AP (G40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332749	NM_012120.3(CD2AP):c.129T>G (p.Asn43Lys)	CD2AP (N43K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1924160	NM_012120.3(CD2AP):c.142A>G (p.Met48Val)	CD2AP (M48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947012	NM_012120.3(CD2AP):c.160G>A (p.Val54Ile)	CD2AP (V54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1633819	NM_012120.3(CD2AP):c.164A>C (p.Lys55Thr)	CD2AP (K55T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 911541	NM_012120.3(CD2AP):c.165+13A>G	CD2AP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1027764	NM_012120.3(CD2AP):c.180_181del (p.Glu60fs)	CD2AP (E60fs)	Microsatellite (frameshift variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 911542	NM_012120.3(CD2AP):c.182C>T (p.Thr61Met)	CD2AP (T61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 260189	NM_012120.3(CD2AP):c.219A>G (p.Glu73=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to +3 more	GBenign/Likely benign
Select item 2621918	NM_012120.3(CD2AP):c.221G>C (p.Arg74Thr)	CD2AP (R74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 911543	NM_012120.3(CD2AP):c.221G>T (p.Arg74Met)	CD2AP (R74M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 1179189	NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter)	CD2AP (R84*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 3, susceptibility to	GPathogenic
Select item 2360329	NM_012120.3(CD2AP):c.251G>A (p.Arg84Gln)	CD2AP (R84Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2720685	NM_012120.3(CD2AP):c.261C>G (p.Thr87=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132146	NM_012120.3(CD2AP):c.276T>C (p.Ala92=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674550	NM_012120.3(CD2AP):c.279A>G (p.Gly93=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140499	NM_012120.3(CD2AP):c.283A>G (p.Ile95Val)	CD2AP (I95V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712388	NM_012120.3(CD2AP):c.297A>G (p.Pro99=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 2636719	NM_012120.3(CD2AP):c.304A>G (p.Lys102Glu)	CD2AP (K102E)	Single nucleotide variant (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 1472885	NM_012120.3(CD2AP):c.311T>A (p.Ile104Asn)	CD2AP (I104N)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GUncertain significance
Select item 2631173	NM_012120.3(CD2AP):c.313_314inv (p.Lys105Leu)	CD2AP (K105L)	Inversion (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 2100416	NM_012120.3(CD2AP):c.319+20C>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318434	NM_012120.3(CD2AP):c.319+79T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683791	NM_012120.3(CD2AP):c.319+156A>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246051	NM_012120.3(CD2AP):c.320-113C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1034971	NM_012120.3(CD2AP):c.323C>T (p.Thr108Ile)	CD2AP (T108I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 357164	NM_012120.3(CD2AP):c.326A>G (p.Lys109Arg)	CD2AP (K109R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 2159429	NM_012120.3(CD2AP):c.332G>A (p.Arg111His)	CD2AP (R111H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120509	NM_012120.3(CD2AP):c.357C>T (p.Tyr119=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778563	NM_012120.3(CD2AP):c.363A>G (p.Pro121=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842579	NM_012120.3(CD2AP):c.373G>A (p.Asp125Asn)	CD2AP (D125N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395538	NM_012120.3(CD2AP):c.400_401delinsGA (p.Ile134Asp)	CD2AP (I134D)	Indel (missense variant)	not provided	GUncertain significance
Select item 357165	NM_012120.3(CD2AP):c.400A>G (p.Ile134Val)	CD2AP (I134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 357166	NM_012120.3(CD2AP):c.401T>A (p.Ile134Asn)	CD2AP (I134N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1247339	NM_012120.3(CD2AP):c.420+148C>T	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289128	NM_012120.3(CD2AP):c.421-25G>A	CD2AP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1904225	NM_012120.3(CD2AP):c.421-5T>C	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712401	NM_012120.3(CD2AP):c.428A>G (p.Glu143Gly)	CD2AP (E143G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 1712402	NM_012120.3(CD2AP):c.429A>C (p.Glu143Asp)	CD2AP (E143D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 2630514	NM_012120.3(CD2AP):c.439A>G (p.Ser147Gly)	CD2AP (S147G)	Single nucleotide variant (missense variant)	CD2AP-related disorder	GUncertain significance
Select item 1164376	NM_012120.3(CD2AP):c.447C>T (p.Thr149=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 911544	NM_012120.3(CD2AP):c.452A>G (p.Asn151Ser)	CD2AP (N151S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 2805550	NM_012120.3(CD2AP):c.474C>T (p.Pro158=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301921	NM_012120.3(CD2AP):c.487A>G (p.Lys163Glu)	CD2AP (K163E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017628	NM_012120.3(CD2AP):c.521A>C (p.His174Pro)	CD2AP (H174P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 357167	NM_012120.3(CD2AP):c.530A>G (p.Gln177Arg)	CD2AP (Q177R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357168	NM_012120.3(CD2AP):c.541+14T>A	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 1989948	NM_012120.3(CD2AP):c.541+19T>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317957	NM_012120.3(CD2AP):c.541+149G>A	CD2AP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683792	NM_012120.3(CD2AP):c.541+173del	CD2AP	Deletion (intron variant)	not provided	GLikely benign
Select item 1230552	NM_012120.3(CD2AP):c.542-303T>G	CD2AP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 908587	NM_012120.3(CD2AP):c.542-11T>C	CD2AP	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 1422021	NM_012120.3(CD2AP):c.551T>C (p.Leu184Ser)	CD2AP (L184S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 357169	NM_012120.3(CD2AP):c.553G>T (p.Ala185Ser)	CD2AP (A185S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 219344	NM_012120.3(CD2AP):c.560C>T (p.Pro187Leu)	CD2AP (P187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970781	NM_012120.3(CD2AP):c.578C>T (p.Ser193Phe)	CD2AP (S193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019886	NM_012120.3(CD2AP):c.600T>C (p.Thr200=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140500	NM_012120.3(CD2AP):c.635G>A (p.Arg212Gln)	CD2AP (R212Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1422944	NM_012120.3(CD2AP):c.635G>T (p.Arg212Leu)	CD2AP (R212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170021	NM_012120.3(CD2AP):c.636A>T (p.Arg212=)	CD2AP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2039108	NM_012120.3(CD2AP):c.660T>G (p.Phe220Leu)	CD2AP (F220L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 830024	NM_012120.3(CD2AP):c.670T>C (p.Ser224Pro)	CD2AP (S224P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 908588	NM_012120.3(CD2AP):c.675G>A (p.Val225=)	CD2AP	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 3, susceptibility to	GUncertain significance
Select item 357170	NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)	CD2AP (R228W)	Single nucleotide variant (missense variant)	CD2AP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1919555	NM_012120.3(CD2AP):c.683G>A (p.Arg228Gln)	CD2AP (R228Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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